HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100646917_100646921del , CM000669.2:g.100646917_100646921del | GRCh38 |
NC_000007.13:g.100244540_100244544del , CM000669.1:g.100244540_100244544del | GRCh37 |
NC_000007.12:g.100082476_100082480del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000160382.10:c.936+50_936+54del MANE Select | ENSP00000160382.5:n.936+50_936+54del | |
ENST00000160382.9:c.936+50_936+54del | ENSP00000160382.5:n.936+50_936+54del | |
ENST00000487125.1:n.498+50_498+54del | ||
NM_016188.4:c.936+50_936+54del | NP_057272.1:n.936+50_936+54del | |
XR_927476.1:n.1043+50_1043+54del | ||
NR_134539.1:n.1043+50_1043+54del | ||
NM_016188.5:c.936+50_936+54del MANE Select | NP_057272.1:n.936+50_936+54del | |
NR_134539.2:n.1030+50_1030+54del |